At a Glance

Menetrier's disease is a rare form of hypertrophic gastropathy. It should be suspected in middle-aged patients (average age at diagnosis is 55 years of age and more frequent in men than women) presenting epigastric pain (the most frequent symptom) variably associated with nausea and vomiting, anorexia, abdominal pain, weight loss, and sometimes gastrointestinal (GI) bleeding, such as hematemesis or lower GI bleeding. Physical examination may reveal edema of peripheral tissues, epigastric tenderness, and signs of anemia. There is also an increased incidence of thrombotic events most likely caused by low intravascular volume.

It is thought to be an acquired and progressive disorder of uncertain etiology, caused by dysregulated epidermal growth factor receptor signaling, resulting in selective expansion of surface mucous cells in the corpus and fundus of the stomach with reduced numbers of parietal cells and chief cells.

Adult form usually starts with an insidious onset followed by a progressive clinical course, whereas childhood form, which has been related with Cytomegalovirus (CMV) infection, is characterized by abrupt onset and spontaneous resolution. Some CMV-related cases with these characteristics have been described in adults.

What Tests Should I Request to Confirm My Clinical Diagnosis? In addition, what follow-up tests might be useful?

Serum gastrin should be ordered, because, as the disease progresses, the secretion of acid and pepsin decreases producing hypo- or a-chlorhydria. Despite high gastric pH, serum gastrin levels result normal to slightly elevated and not very high as one could expect, since the disease also affects the antrum and, therefore, gastrin secreting cells are reduced.

CMV serology is recommended, because CMV associated form of Menetrier's disease is more frequent in children but may also be seen in adults.

Additional Issues of Clinical Importance

The etiology of Menetrier's disease is not clear, although a causative role has been proposed for allergy, toxicants, and various infections. Hereditary disposition probably plays a minor role, but some cases, especially among siblings, have been described.

The risk of malignancy in Menetrier's disease remains uncertain, and an incidence rate of gastric carcinoma from 0 to 8% has been reported.

An association with ulcerative colitis has been described.

The extent of gastric resection is not standardized, and it has to consider the potential risk of malignant transformation of the disease. Epidermal growth factor receptor inhibitors (Cetuximab) have also demonstrated favorable results.

The only resolute treatment is total gastrectomy, especially for patients with uncontrollable bleeding or protein loss.

Errors in Tests Selection

No laboratory test or test panel presents a diagnostic sensitivity and specificity high enough to allow the clinicians to exclude or confirm the disease. Previously discussed laboratory tests must be requested as a part of the diagnostic pathway, including EGDS.

Juvenile polyposis syndrome (JPS) and other familiar polyposis should be distinguished from Menetrier's disease. Careful anamnesis and family history, as well as endoscopy and histological findings, can help the physician. Genetically, JPS has been linked to mutation in two genes, SMAD4 and BMPRIA.

Errors may derive for any laboratory test by wrong procedures and mistakes in all phases (pre-, intra- and post-analytical) of the testing process. The main mistake is to reach a conclusion that Menetrier's disease is absent in the case of normal laboratory tests results or that it is present based on laboratory tests results alone.